A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704486



Internal ID9770833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7766365..7766830hg38UCSC Ensembl
Outerchr4:7768092..7768557hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727079
Supporting Variants
SamplesSSM040
Known GenesAFAP1, AFAP1-AS1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6704486
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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